Primary Identifier | MGI:2141969 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 101592 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activity and ribosome binding activity. Predicted to be involved in GTP metabolic process and cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Is expressed in head and liver. Human ortholog(s) of this gene implicated in Shwachman-Diamond syndrome. Orthologous to human EFL1 (elongation factor like GTPase 1). PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, and complete embryonic lethality by E9.5. Mice homozygous for an ENU-induced mutation exhibit late-onset and progressive gait abnormalities. [provided by MGI curators] |